Canonical Allele Identifier: CA324369783
Gene: PDGFB HGNC NCBI

Linked Data

dbSNP Id: rs993304509
gnomAD v3: 22-39244739-A-AGCTGCGGGCTGCGG
gnomAD v4: 22-39244739-A-AGCTGCGGGCTGCGG
MyVariant Identifiers: chr22:g.39640744_39640745insGCTGCGGGCTGCGG (hg19) chr22:g.39244739_39244740insGCTGCGGGCTGCGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.39244745_39244746insGGCTGCGGGCTGCG , CM000684.2:g.39244745_39244746insGGCTGCGGGCTGCG GRCh38
NC_000022.10:g.39640750_39640751insGGCTGCGGGCTGCG , CM000684.1:g.39640750_39640751insGGCTGCGGGCTGCG GRCh37
NC_000022.9:g.37970696_37970697insGGCTGCGGGCTGCG NCBI36
NG_012111.1:g.5213_5214insCCGCAGCCCGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000331163.11:c.-777_-776insCCGCAGCCCGCAGC MANE Select ENSP00000330382.6:n.-777_-776insCCGCAGCCCGCAGC
ENST00000331163.10:c.-777_-776insCCGCAGCCCGCAGC ENSP00000330382.6:n.-777_-776insCCGCAGCCCGCAGC
NM_002608.2:c.-777_-776insCCGCAGCCCGCAGC NP_002599.1:n.-777_-776insCCGCAGCCCGCAGC
NM_002608.3:c.-777_-776insCCGCAGCCCGCAGC NP_002599.1:n.-777_-776insCCGCAGCCCGCAGC
NM_002608.4:c.-777_-776insCCGCAGCCCGCAGC MANE Select NP_002599.1:n.-777_-776insCCGCAGCCCGCAGC
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